Canonical Allele Identifier: CA403330068
Gene: TBXA2R HGNC NCBI

Linked Data

gnomAD v4: 19-3595734-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3595734G>T , CM000681.2:g.3595734G>T GRCh38
NC_000019.9:g.3595732G>T , CM000681.1:g.3595732G>T GRCh37
NC_000019.8:g.3546732G>T NCBI36
NG_013363.1:g.16100C>A , LRG_578:g.16100C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375190.10:c.986C>A MANE Select ENSP00000364336.4:p.Ser329Ter
ENST00000375190.8:c.986C>A ENSP00000364336.3:p.Ser329Ter
ENST00000411851.3:c.983+3C>A ENSP00000393333.2:n.983+3C>A
ENST00000589966.1:c.597C>A ENSP00000468145.1:p.Val199=
NM_001060.5:c.986C>A , LRG_578t1:c.986C>A NP_001051.1:p.Ser329Ter
NM_201636.2:c.983+3C>A NP_963998.2:n.983+3C>A
XM_011528214.1:c.986C>A XP_011526516.1:p.Ser329Ter
XM_011528214.2:c.986C>A XP_011526516.1:p.Ser329Ter
NM_001060.6:c.986C>A MANE Select NP_001051.1:p.Ser329Ter
NM_201636.3:c.983+3C>A NP_963998.2:n.983+3C>A